Variant report

Variant	rs9892404
Chromosome Location	chr17:38383445-38383446
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38381357..38383850-chr17:38384561..38387081,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs11078939	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11078940	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12051734	0.80[EUR][1000 genomes]
rs12103921	0.81[ASN][1000 genomes]
rs12944717	0.87[ASN][1000 genomes]
rs13706	0.90[EUR][1000 genomes]
rs16965687	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1807273	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2280400	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28537537	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28663197	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34223321	0.82[ASN][1000 genomes]
rs3744806	0.82[ASN][1000 genomes]
rs4077125	0.92[ASN][1000 genomes]
rs45567834	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4566234	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55656553	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55767073	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55772196	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs55835834	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55991953	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56013073	0.82[ASN][1000 genomes]
rs56029626	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58822685	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59018914	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59406133	0.80[EUR][1000 genomes]
rs59490243	0.92[ASN][1000 genomes]
rs59861136	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60220138	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61024420	0.86[ASN][1000 genomes]
rs6503539	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67597966	0.88[ASN][1000 genomes]
rs72836633	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72836634	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72836635	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72836636	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72836639	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72836640	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72836641	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72836642	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72836648	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72836651	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72836653	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72836656	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72836660	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7359537	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73983025	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8073925	0.84[ASN][1000 genomes]
rs8078204	0.91[ASN][1000 genomes]
rs8078226	0.92[ASN][1000 genomes]
rs8080931	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8082192	0.82[ASN][1000 genomes]
rs9303286	0.80[EUR][1000 genomes]
rs9891694	0.92[ASN][1000 genomes]
rs9891718	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9892946	0.92[ASN][1000 genomes]
rs9892973	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9893520	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9894625	0.89[EUR][1000 genomes]
rs9895163	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9897092	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9901109	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9904021	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9904270	0.81[EUR][1000 genomes]
rs9906409	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9907683	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9908034	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9908257	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9908354	0.84[ASN][1000 genomes]
rs9910197	0.92[ASN][1000 genomes]
rs9910788	0.86[ASN][1000 genomes]
rs9911840	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9912082	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9914531	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9916460	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9916782	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv525796	chr17:38306365-38405037	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38376600-38389200	Weak transcription	Esophagus	oesophagus
2	chr17:38376600-38389800	Weak transcription	Colonic Mucosa	Colon
3	chr17:38376600-38389800	Weak transcription	Ovary	ovary
4	chr17:38376600-38390400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr17:38376600-38392200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:38376600-38393200	Weak transcription	Fetal Heart	heart
7	chr17:38376600-38400400	Weak transcription	Psoas Muscle	Psoas
8	chr17:38376600-38412400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr17:38376600-38416800	Weak transcription	Aorta	Aorta
10	chr17:38376800-38383800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr17:38376800-38386800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr17:38376800-38387200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr17:38376800-38388600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr17:38376800-38389200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr17:38376800-38389200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr17:38376800-38389200	Weak transcription	HUVEC	blood vessel
17	chr17:38376800-38389600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr17:38376800-38389600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr17:38376800-38390600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr17:38376800-38391400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr17:38376800-38391600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr17:38376800-38393600	Weak transcription	HMEC	breast
23	chr17:38377000-38418400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr17:38377200-38384600	Weak transcription	Primary B cells from cord blood	blood
25	chr17:38377200-38404800	Weak transcription	HSMMtube	muscle
26	chr17:38377400-38383600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr17:38377400-38388400	Weak transcription	Lung	lung
28	chr17:38377400-38389200	Weak transcription	Gastric	stomach
29	chr17:38377400-38408000	Weak transcription	Small Intestine	intestine
30	chr17:38377600-38386600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr17:38377600-38388600	Weak transcription	GM12878-XiMat	blood
32	chr17:38377600-38389200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr17:38377600-38412800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr17:38377800-38384600	Weak transcription	HepG2	liver
35	chr17:38377800-38386400	Weak transcription	Spleen	Spleen
36	chr17:38377800-38389200	Weak transcription	A549	lung
37	chr17:38377800-38390000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr17:38377800-38390800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr17:38377800-38400400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr17:38378800-38383800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr17:38378800-38389000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr17:38378800-38389200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr17:38378800-38389200	Weak transcription	Left Ventricle	heart
44	chr17:38379000-38389200	Weak transcription	Dnd41	blood
45	chr17:38379200-38413000	Weak transcription	Pancreas	Pancrea
46	chr17:38379600-38385400	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr17:38380800-38385800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr17:38381000-38389200	Weak transcription	Placenta	Placenta
49	chr17:38381200-38387200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr17:38381200-38388600	Weak transcription	Duodenum Mucosa	Duodenum

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